Canonical Allele Identifier: CA2574381393

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063659-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063665_55063666del , CM000663.2:g.55063665_55063666del	GRCh38
NC_000001.10:g.55529338_55529339del , CM000663.1:g.55529338_55529339del	GRCh37
NC_000001.9:g.55301926_55301927del	NCBI36
NG_009061.1:g.29119_29120del , LRG_275:g.29119_29120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*500_*501del	ENSP00000501161.2:n.*500_*501del
ENST00000710286.1:c.*81_*82del	ENSP00000518176.1:n.*81_*82del
ENST00000673903.1:c.*81_*82del	ENSP00000501257.1:n.*81_*82del
ENST00000302118.5:c.*81_*82del MANE Select	ENSP00000303208.5:n.*81_*82del
ENST00000490692.1:n.2706_2707del
NM_174936.3:c.*81_*82del , LRG_275t1:c.*81_*82del	NP_777596.2:n.*81_*82del
NR_110451.1:n.1767_1768del
XM_011541193.1:c.*81_*82del	XP_011539495.1:n.*81_*82del
NM_174936.4:c.*81_*82del MANE Select	NP_777596.2:n.*81_*82del
NR_110451.2:n.1767_1768del